PEDIATRICS CLINICAL RESEARCH

ABSTRACT: Supratentorial primitive neuroectodermal tumors while histologically similar to medulloblastoma is less curable. Gross total resection and therefore early recognition is crucial to a favorable outcome. We report our experience with a 4 year old girl whose clinical course and radiology were atypical. The patient was referred to our center for management of a seizure disorder manifesting as episodic choking, spitting, drooling and vomiting. MRI showed cortical thickening (right perisylvian fissure; right frontal operculum; insula) patchy/gyriform enhancement of the right sylvian fissure resembling angiomatous dysplasia and clusters of dysplastic meningeal vessels. There was no mass effect, midline shift, ventriculomegaly and MRV/MRA were normal. The radiological differential diagnoses offered were polymicrogyria, focal cortical dysplasia, neuronal migrational disorders, neurofibromatosis and Sturge-Webber syndrome. She had no neurological deficits and seizures were controlled with Topiramate/Levetiracetam. Brain CT 3 months later showed focal dystrophic calcification in the right perisylvian region superimposed on the cortical dysplasia again suggestive of a phakomatosis. ASA was commenced to reduce risk of stroke. MRI performed two months later showed progression of leptomeningeal enhancement involving the suprasellar cistern/perimesencephalic cistern, left sylvian fissure, ventral brainstem and cerebellar vermis. There was tumefactive material in the right pre-pontine cistern and right ventricular effacement. Spinal cord MRI done at this time showed diffuse subarachnoid spread. Throughout this period apart from episodic facial pain the patient had no neurological, speech, ocular, cerebellar or major cognitive deficits. A biopsy was performed and histopathology was consistent with supratentorial PNET. CSF was negative for malignant cells. Due to the extent /inoperability of the tumor, minimal possibility of cure/high likelihood of severe treatment related side-effects parents opted for supportive care rather than curative treatment. The patient passed away a few months later. A high index of suspicion and low threshold to biopsy is recommended for early diagnosis of these tumors.

SUBMITTER: Antony R 

PROVIDER: S-EPMC3823900 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature